Canonical Allele Identifier: CA3847147
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1129712
ClinVar RCV Id: RCV001462931
dbSNP Id: rs772522418
ExAC: 6:49426916 C / T
gnomAD v2: 6-49426916-C-T
gnomAD v4: 6-49459203-C-T
MyVariant Identifiers: chr6:g.49426916C>T (hg19) chr6:g.49459203C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459203C>T , CM000668.2:g.49459203C>T GRCh38
NC_000006.11:g.49426916C>T , CM000668.1:g.49426916C>T GRCh37
NC_000006.10:g.49534875C>T NCBI36
NG_007100.1:g.8937G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.264G>A MANE Select ENSP00000274813.3:p.Val88=
ENST00000274813.3:c.264G>A ENSP00000274813.3:p.Val88=
NM_000255.3:c.264G>A NP_000246.2:p.Val88=
XM_005249143.2:c.264G>A XP_005249200.1:p.Val88=
XM_005249143.3:c.264G>A XP_005249200.1:p.Val88=
NM_000255.4:c.264G>A MANE Select NP_000246.2:p.Val88=
Search 100 bp 5'
Search 100 bp 3'